ClinVar Miner

List of variants in gene MT-TQ reported as likely benign for MELAS syndrome

Included ClinVar conditions (6):

Diabetes-deafness syndrome maternally transmitted; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; Hypertrophic cardiomyopathy; Leigh Syndrome (mtDNA mutation)
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Kearns-Sayre syndrome; Leber optic atrophy; MERRF syndrome; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; NARP syndrome; Leigh syndrome; Progressive external ophthalmoplegia
Leber optic atrophy; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Leber optic atrophy; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; Mitochondrial DNA-Associated Leigh Syndrome and NARP
MERRF syndrome; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NC_012920.1(MT-CYB):m.4375C>T	rs1603219433
NC_012920.1(MT-CYB):m.4384T>A	rs1603219436
NC_012920.1(MT-CYB):m.4385A>G	rs386828941
NC_012920.1(MT-CYB):m.4387C>T	rs1556422854

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